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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
2006 1
2008 1
2009 1
2010 1
2011 1
2012 1
2013 3
2014 1
2015 1
2016 1
2018 4
2019 5
2020 2
2021 5
2022 2
2023 1
2024 1

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27 results

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Page 1
DLG4-related synaptopathy: a new rare brain disorder.
Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Müller AJ, O'Leary M, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schlüter A, Schönewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmüller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gómez-Puertas P, Pujol A, Tümer Z. Rodríguez-Palmero A, et al. Among authors: repnikova e. Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17. Genet Med. 2021. PMID: 33597769 Free article.
Integrated genetic profiling of archival pediatric high-grade glial tumors and reassessment with 2021 WHO classification of paediatric CNS tumours.
Cooley LD, Lansdon LA, Laurence K, Herriges JC, Zhang L, Repnikova EA, Joyce J, Thakor P, Warren L, Smith SC, Yoo B, Gener M, Ginn KF, Farooqi MS. Cooley LD, et al. Among authors: repnikova ea. Cancer Genet. 2023 Jun;274-275:10-20. doi: 10.1016/j.cancergen.2023.02.004. Epub 2023 Mar 5. Cancer Genet. 2023. PMID: 36917897
Diagnostic yield of genetic testing in 324 infants with hypotonia.
Sharma S, Repnikova E, Noel-MacDonnell JR, LePichon JB. Sharma S, et al. Among authors: repnikova e. Clin Genet. 2021 Dec;100(6):752-757. doi: 10.1111/cge.14057. Epub 2021 Sep 16. Clin Genet. 2021. PMID: 34480364 Free PMC article.
Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing.
Lansdon LA, Cadieux-Dion M, Yoo B, Miller N, Cohen ASA, Zellmer L, Zhang L, Farrow EG, Thiffault I, Repnikova EA, Cooley LD, Alaimo JT, Porath B, Herriges JC, Saunders CJ, Farooqi MS. Lansdon LA, et al. Among authors: repnikova ea. J Mol Diagn. 2021 May;23(5):651-657. doi: 10.1016/j.jmoldx.2021.02.003. Epub 2021 Feb 22. J Mol Diagn. 2021. PMID: 33631350 Free article.
Expanding the phenotype of feingold syndrome-2.
Grote LE, Repnikova EA, Amudhavalli SM. Grote LE, et al. Among authors: repnikova ea. Am J Med Genet A. 2015 Dec;167A(12):3219-25. doi: 10.1002/ajmg.a.37368. Epub 2015 Sep 11. Am J Med Genet A. 2015. PMID: 26360630
27 results